4.6 Article

Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting

期刊

CLINICAL PHARMACOLOGY & THERAPEUTICS
卷 99, 期 2, 页码 172-185

出版社

WILEY
DOI: 10.1002/cpt.280

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资金

  1. NCI NIH HHS [P30 CA021765] Funding Source: Medline
  2. NHGRI NIH HHS [U01 HG007762, U01HG007762, U41HG003345, U41 HG003345] Funding Source: Medline
  3. NIDA NIH HHS [R01 DA035736] Funding Source: Medline
  4. NIGMS NIH HHS [R24 GM115264, K23 GM104401, 2 R01 GM088076-05, R24GM115264, R24 GM61374, U19 GM61388, U19 GM061388, R01 GM088076, R24 GM061374] Funding Source: Medline
  5. Wellcome Trust [099129/Z/12/Z] Funding Source: Medline
  6. Intramural CDC HHS [CC999999] Funding Source: Medline

向作者/读者索取更多资源

This article provides nomenclature recommendations developed by an international workgroup to increase transparency and standardization of pharmacogenetic (PGx) result reporting. Presently, sequence variants identified by PGx tests are described using different nomenclature systems. In addition, PGx analysis may detect different sets of variants for each gene, which can affect interpretation of results. This practice has caused confusion and may thereby impede the adoption of clinical PGx testing. Standardization is critical to move PGx forward.

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